Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Abnormal central motor function (HP:0011442)help
Parent Node:
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Abnormality of movement (HP:0100022)help
..Starting node
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Cerebral palsy (HP:0100021)help
Term ID: 100021
Name: Cerebral palsy
Synonym: Cerebral paralysis; CP
Definition: Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems.
Comments:
Reference: HP:0100021
Genes and Diseases:
 
       Child Nodes:
........expandAthetoid cerebral palsy (HP:0011445) help

 Sister Nodes: 
..expandAbnormal head movements (HP:0002457) help
..expandAbnormal posturing (HP:0002533) help
..expandAbnormal reflex (HP:0031826) help
..expandAstasia (HP:0020037) help
..expandAsterixis (HP:0012164) help
..expandBimanual synkinesia (HP:0001335) help
..expandDiminished movement (HP:0002374) help
..expandDyskinesia (HP:0100660) help
..expandDystonia (HP:0001332) help
..expandFrontal release signs (HP:0000743) help
..expandGait disturbance (HP:0001288) help
..expandHyperactivity (HP:0000752) help
..expandHyperkinetic movements (HP:0002487) help
..expandInvoluntary movements (HP:0004305) help
..expandMuscle fibrillation (HP:0010546) help
..expandMyokymia (HP:0002411) help
..expandPostural instability (HP:0002172) help
..expandPrimitive reflex (HP:0002476) help
..expandStooped posture (HP:0025403) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100021HP:0100021Cerebral palsy0AIP CL E G H9049963ORPHA1487358605555
HP:0100021HP:0100021Cerebral palsy0AIP CL E G H9049963ORPHA1395358605555
HP:0100021HP:0100021Cerebral palsy0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1264574602296
HP:0100021HP:0100021Cerebral palsy0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1199574602296
HP:0100021HP:0100021Cerebral palsy0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1110575607243
HP:0100021HP:0100021Cerebral palsy0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM189575607243
HP:0100021HP:0100021Cerebral palsy0ATP8A2 CL E G H517611766ORPHA119313533605870
HP:0100021HP:0100021Cerebral palsy0ATP8A2 CL E G H517611766ORPHA112613533605870
HP:0100021HP:0100021Cerebral palsy0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM145414262607270
HP:0100021HP:0100021Cerebral palsy0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM143914262607270
HP:0100021HP:0100021Cerebral palsy0CA8 CL E G H7671766ORPHA1831382114815
HP:0100021HP:0100021Cerebral palsy0CA8 CL E G H7671766ORPHA1771382114815
HP:0100021HP:0100021Cerebral palsy0CACNA1D CL E G H776369929ORPHA14771391114206
HP:0100021HP:0100021Cerebral palsy0CACNA1D CL E G H776369929ORPHA17441391114206
HP:0100021HP:0100021Cerebral palsy0CACNA1D CL E G H776615474Primary aldosteronism, seizures, and neurologic abnormalities615474C3809609OMIM17441391114206
HP:0100021HP:0100021Cerebral palsy0CACNA1D CL E G H776615474Primary aldosteronism, seizures, and neurologic abnormalities615474C3809609OMIM14771391114206
HP:0100021HP:0100021Cerebral palsy0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM11624092605363
HP:0100021HP:0100021Cerebral palsy0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM11414092605363
HP:0100021HP:0100021Cerebral palsy0GPR101 CL E G H83550963ORPHA120014963300393
HP:0100021HP:0100021Cerebral palsy0GPR101 CL E G H83550963ORPHA119614963300393
HP:0100021HP:0100021Cerebral palsy0IDUA CL E G H342593474ORPHA111145391252800
HP:0100021HP:0100021Cerebral palsy0IDUA CL E G H342593473ORPHA111145391252800
HP:0100021HP:0100021Cerebral palsy0IDUA CL E G H342593474ORPHA19715391252800
HP:0100021HP:0100021Cerebral palsy0IDUA CL E G H342593473ORPHA19715391252800
HP:0100021HP:0100021Cerebral palsy0KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM164719309607704
HP:0100021HP:0100021Cerebral palsy0KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM151019309607704
HP:0100021HP:0100021Cerebral palsy0PROC CL E G H5624612304Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive612304C2676759OMIM12509451612283
HP:0100021HP:0100021Cerebral palsy0PROC CL E G H5624612304Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive612304C2676759OMIM12259451612283
HP:0100021HP:0100021Cerebral palsy0RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM18021150610432
HP:0100021HP:0100021Cerebral palsy0RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM17621150610432
HP:0100021HP:0100021Cerebral palsy0SCN4A CL E G H6329682ORPHA1124110591603967
HP:0100021HP:0100021Cerebral palsy0SCN4A CL E G H6329682ORPHA1108110591603967
HP:0100021HP:0100021Cerebral palsy0SLC6A3 CL E G H6531238455ORPHA143911049126455
HP:0100021HP:0100021Cerebral palsy0SLC6A3 CL E G H6531238455ORPHA138311049126455
HP:0100021HP:0100021Cerebral palsy0TUBB2B CL E G H3477331766ORPHA115130829612850
HP:0100021HP:0100021Cerebral palsy0TUBB2B CL E G H3477331766ORPHA114130829612850
HP:0100021HP:0100021Cerebral palsy0UGT1A1 CL E G H54658237900Lucey-Driscoll syndrome237900C0270210OMIM124012530191740
HP:0100021HP:0100021Cerebral palsy0UGT1A1 CL E G H54658237900Lucey-Driscoll syndrome237900C0270210OMIM120712530191740
HP:0100021HP:0100021Cerebral palsy0VLDLR CL E G H74361766ORPHA147712698192977
HP:0100021HP:0100021Cerebral palsy0VLDLR CL E G H74361766ORPHA146112698192977
HP:0100021HP:0100021Cerebral palsy0WDR81 CL E G H1249971766ORPHA125626600614218
HP:0100021HP:0100021Cerebral palsy0WDR81 CL E G H1249971766ORPHA124826600614218
HP:0100021HP:0011445Athetoid cerebral palsy1AIP CL E G H9049963ORPHA1395358605555
HP:0100021HP:0011445Athetoid cerebral palsy1AIP CL E G H9049963ORPHA1487358605555
HP:0100021HP:0011445Athetoid cerebral palsy1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1199574602296
HP:0100021HP:0011445Athetoid cerebral palsy1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1264574602296
HP:0100021HP:0011445Athetoid cerebral palsy1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM189575607243
HP:0100021HP:0011445Athetoid cerebral palsy1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1110575607243
HP:0100021HP:0011445Athetoid cerebral palsy1ATP8A2 CL E G H517611766ORPHA112613533605870
HP:0100021HP:0011445Athetoid cerebral palsy1ATP8A2 CL E G H517611766ORPHA119313533605870
HP:0100021HP:0011445Athetoid cerebral palsy1AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM143914262607270
HP:0100021HP:0011445Athetoid cerebral palsy1AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM145414262607270
HP:0100021HP:0011445Athetoid cerebral palsy1CA8 CL E G H7671766ORPHA1771382114815
HP:0100021HP:0011445Athetoid cerebral palsy1CA8 CL E G H7671766ORPHA1831382114815
HP:0100021HP:0011445Athetoid cerebral palsy1CACNA1D CL E G H776369929ORPHA17441391114206
HP:0100021HP:0011445Athetoid cerebral palsy1CACNA1D CL E G H776369929ORPHA14771391114206
HP:0100021HP:0011445Athetoid cerebral palsy1CACNA1D CL E G H776615474Primary aldosteronism, seizures, and neurologic abnormalities615474C3809609OMIM14771391114206
HP:0100021HP:0011445Athetoid cerebral palsy1CACNA1D CL E G H776615474Primary aldosteronism, seizures, and neurologic abnormalities615474C3809609OMIM17441391114206
HP:0100021HP:0011445Athetoid cerebral palsy1GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM11414092605363
HP:0100021HP:0011445Athetoid cerebral palsy1GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM11624092605363
HP:0100021HP:0011445Athetoid cerebral palsy1GPR101 CL E G H83550963ORPHA119614963300393
HP:0100021HP:0011445Athetoid cerebral palsy1GPR101 CL E G H83550963ORPHA120014963300393
HP:0100021HP:0011445Athetoid cerebral palsy1IDUA CL E G H342593473ORPHA19715391252800
HP:0100021HP:0011445Athetoid cerebral palsy1IDUA CL E G H342593474ORPHA19715391252800
HP:0100021HP:0011445Athetoid cerebral palsy1IDUA CL E G H342593473ORPHA111145391252800
HP:0100021HP:0011445Athetoid cerebral palsy1IDUA CL E G H342593474ORPHA111145391252800
HP:0100021HP:0011445Athetoid cerebral palsy1KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM151019309607704
HP:0100021HP:0011445Athetoid cerebral palsy1KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM164719309607704
HP:0100021HP:0011445Athetoid cerebral palsy1PROC CL E G H5624612304Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive612304C2676759OMIM12259451612283
HP:0100021HP:0011445Athetoid cerebral palsy1PROC CL E G H5624612304Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive612304C2676759OMIM12509451612283
HP:0100021HP:0011445Athetoid cerebral palsy1RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM17621150610432
HP:0100021HP:0011445Athetoid cerebral palsy1RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM18021150610432
HP:0100021HP:0011445Athetoid cerebral palsy1SCN4A CL E G H6329682ORPHA1108110591603967
HP:0100021HP:0011445Athetoid cerebral palsy1SCN4A CL E G H6329682ORPHA1124110591603967
HP:0100021HP:0011445Athetoid cerebral palsy1SLC6A3 CL E G H6531238455ORPHA138311049126455
HP:0100021HP:0011445Athetoid cerebral palsy1SLC6A3 CL E G H6531238455ORPHA143911049126455
HP:0100021HP:0011445Athetoid cerebral palsy1TUBB2B CL E G H3477331766ORPHA114130829612850
HP:0100021HP:0011445Athetoid cerebral palsy1TUBB2B CL E G H3477331766ORPHA115130829612850
HP:0100021HP:0011445Athetoid cerebral palsy1UGT1A1 CL E G H54658237900Lucey-Driscoll syndrome237900C0270210OMIM120712530191740
HP:0100021HP:0011445Athetoid cerebral palsy1UGT1A1 CL E G H54658237900Lucey-Driscoll syndrome237900C0270210OMIM124012530191740
HP:0100021HP:0011445Athetoid cerebral palsy1VLDLR CL E G H74361766ORPHA146112698192977
HP:0100021HP:0011445Athetoid cerebral palsy1VLDLR CL E G H74361766ORPHA147712698192977
HP:0100021HP:0011445Athetoid cerebral palsy1WDR81 CL E G H1249971766ORPHA124826600614218
HP:0100021HP:0011445Athetoid cerebral palsy1WDR81 CL E G H1249971766ORPHA125626600614218
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100021HP:0100021Cerebral palsy0DCC CL E G H1630238722ORPHA01622701120470
HP:0100021HP:0100021Cerebral palsy0DCC CL E G H1630238722ORPHA01602701120470
HP:0100021HP:0100021Cerebral palsy0DNAL4 CL E G H10126238722ORPHA0282955610565
HP:0100021HP:0100021Cerebral palsy0DNASE1L3 CL E G H177636412ORPHA01052959602244
HP:0100021HP:0100021Cerebral palsy0DNASE1L3 CL E G H177636412ORPHA0452959602244
HP:0100021HP:0100021Cerebral palsy0HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA01835154601688
HP:0100021HP:0100021Cerebral palsy0HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA01655154601688
HP:0100021HP:0100021Cerebral palsy0IDH1 CL E G H3417163634ORPHA0695382147700
HP:0100021HP:0100021Cerebral palsy0IDH1 CL E G H3417163634ORPHA0685382147700
HP:0100021HP:0100021Cerebral palsy0IDH2 CL E G H3418163634ORPHA01625383147650
HP:0100021HP:0100021Cerebral palsy0IDH2 CL E G H3418163634ORPHA01405383147650
HP:0100021HP:0100021Cerebral palsy0NTN1 CL E G H9423238722ORPHA0248029601614
HP:0100021HP:0100021Cerebral palsy0NTN1 CL E G H9423238722ORPHA0258029601614
HP:0100021HP:0100021Cerebral palsy0OTUD6B CL E G H51633505237ORPHA05624281612021
HP:0100021HP:0100021Cerebral palsy0OTUD6B CL E G H51633505237ORPHA06124281612021
HP:0100021HP:0100021Cerebral palsy0RAD51 CL E G H5888238722ORPHA0729817179617
HP:0100021HP:0100021Cerebral palsy0RAD51 CL E G H5888238722ORPHA0819817179617
HP:0100021HP:0100021Cerebral palsy0SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA014010955601460
HP:0100021HP:0100021Cerebral palsy0SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA09710955601460
HP:0100021HP:0100021Cerebral palsy0SMARCB1 CL E G H659899966ORPHA071911103601607
HP:0100021HP:0100021Cerebral palsy0SMARCB1 CL E G H659899966ORPHA064211103601607
HP:0100021HP:0100021Cerebral palsy0SPR CL E G H669770594ORPHA014511257182125
HP:0100021HP:0100021Cerebral palsy0SPR CL E G H669770594ORPHA012811257182125
HP:0100021HP:0100021Cerebral palsy0ST3GAL5 CL E G H8869370938ORPHA024310872604402
HP:0100021HP:0100021Cerebral palsy0ST3GAL5 CL E G H8869370938ORPHA028310872604402
HP:0100021HP:0011445Athetoid cerebral palsy1DCC CL E G H1630238722ORPHA01602701120470
HP:0100021HP:0011445Athetoid cerebral palsy1DCC CL E G H1630238722ORPHA01622701120470
HP:0100021HP:0011445Athetoid cerebral palsy1DNAL4 CL E G H10126238722ORPHA0282955610565
HP:0100021HP:0011445Athetoid cerebral palsy1DNASE1L3 CL E G H177636412ORPHA0452959602244
HP:0100021HP:0011445Athetoid cerebral palsy1DNASE1L3 CL E G H177636412ORPHA01052959602244
HP:0100021HP:0011445Athetoid cerebral palsy1HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA01655154601688
HP:0100021HP:0011445Athetoid cerebral palsy1HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA01835154601688
HP:0100021HP:0011445Athetoid cerebral palsy1IDH1 CL E G H3417163634ORPHA0685382147700
HP:0100021HP:0011445Athetoid cerebral palsy1IDH1 CL E G H3417163634ORPHA0695382147700
HP:0100021HP:0011445Athetoid cerebral palsy1IDH2 CL E G H3418163634ORPHA01405383147650
HP:0100021HP:0011445Athetoid cerebral palsy1IDH2 CL E G H3418163634ORPHA01625383147650
HP:0100021HP:0011445Athetoid cerebral palsy1NTN1 CL E G H9423238722ORPHA0258029601614
HP:0100021HP:0011445Athetoid cerebral palsy1NTN1 CL E G H9423238722ORPHA0248029601614
HP:0100021HP:0011445Athetoid cerebral palsy1OTUD6B CL E G H51633505237ORPHA06124281612021
HP:0100021HP:0011445Athetoid cerebral palsy1OTUD6B CL E G H51633505237ORPHA05624281612021
HP:0100021HP:0011445Athetoid cerebral palsy1RAD51 CL E G H5888238722ORPHA0819817179617
HP:0100021HP:0011445Athetoid cerebral palsy1RAD51 CL E G H5888238722ORPHA0729817179617
HP:0100021HP:0011445Athetoid cerebral palsy1SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA09710955601460
HP:0100021HP:0011445Athetoid cerebral palsy1SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA014010955601460
HP:0100021HP:0011445Athetoid cerebral palsy1SMARCB1 CL E G H659899966ORPHA064211103601607
HP:0100021HP:0011445Athetoid cerebral palsy1SMARCB1 CL E G H659899966ORPHA071911103601607
HP:0100021HP:0011445Athetoid cerebral palsy1SPR CL E G H669770594ORPHA012811257182125
HP:0100021HP:0011445Athetoid cerebral palsy1SPR CL E G H669770594ORPHA014511257182125
HP:0100021HP:0011445Athetoid cerebral palsy1ST3GAL5 CL E G H8869370938ORPHA028310872604402
HP:0100021HP:0011445Athetoid cerebral palsy1ST3GAL5 CL E G H8869370938ORPHA024310872604402


Genes (32) :AIP AP4M1 AP4S1 ATP8A2 AUTS2 CA8 CACNA1D DCC DNAL4 DNASE1L3 GAD1 GPR101 HPGD IDH1 IDH2 IDUA KANK1 NTN1 OTUD6B PROC RAD51 RNF125 SCN4A SLC6A3 SLCO2A1 SMARCB1 SPR ST3GAL5 TUBB2B UGT1A1 VLDLR WDR81

Diseases (24) :963 612936 614067 1766 615834 369929 615474 238722 36412 603513 2796 163634 93473 93474 612900 505237 612304 616260 682 238455 99966 70594 370938 237900
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.